is scaphocephaly genetic

Sometimes, scaphocephaly is part of a genetic syndrome. This is an inherited group of signs and symptoms that usually occur together. Most genetic syndromes are rare.

Full Answer

What is scaphocephaly and what causes it?

Scaphocephaly is a type of cephalic disorder which occurs when there is a premature fusion of the sagittal suture. The sagittal suture joins together the two parietal bones of the skull. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head.

What is scaphocephaly (sagittal craniosynostosis)?

Scaphocephaly, also known as sagittal craniosynostosis, is a birth defect that affects your baby’s skull. Craniosynostosis means skull bones fuse together before birth. This may create pressure as the brain grows and cause your baby’s head to become misshapen. If not treated, scaphocephaly can affect brain growth and development.

What percentage of babies with scaphocephaly are assigned male?

One study found that 80% of babies with scaphocephaly were assigned male at birth (AMAB). What are the symptoms of scaphocephaly? The main sign is an abnormally shaped head that becomes more obvious and misshapen as your child grows.

What are the treatment options for scaphocephaly?

The two types of surgical treatment for scaphocephaly are: Strip craniectomy: This is a minimally invasive endoscopic surgery that uses two small incisions. Your surgeon removes a strip of bone, including the sagittal suture, and sometimes several strips on the side of your baby’s head to help their brain expand (barrel staves).

Does craniosynostosis run in families?

Craniosynostosis is often noticeable at birth, but can also be diagnosed in older children. This condition sometimes runs in families, but most often it occurs randomly.

What is scaphocephaly caused by?

Scaphocephaly is caused by the early fusion of the sagittal suture which runs from front to back at the top of the skull. Early fusion of a suture in infancy is called synostosis and this type is the most common form of craniosynostosis.

How common is scaphocephaly?

How common is scaphocephaly? Estimates of how often craniosynostosis occurs range from 1 in 200 to 1 in 2,500 births. Sagittal craniosynostosis (scaphocephaly) accounts for over half of these cases. One study found that 80% of babies with scaphocephaly were assigned male at birth (AMAB).

Does scaphocephaly cause brain damage?

This is called dolicocephaly (or scaphocephaly). In addition to a deformed skull, there is a real risk that the brain may not have enough room to grow in sagittal synostosis. Elevated cranial pressure and subsequent neurological damage can occur.

How do you fix scaphocephaly?

Scaphocephaly may be merely positional or the result of craniosynostosis due to premature fusion of the sagittal suture of the skull, in which case surgery is the most effective solution. The head is longer in distance at the front than at the back.

What does scaphocephaly look like?

Scaphocephaly, from the Greek, meaning 'light boat' head, to describe a head that is long and narrow resembling an inverted boat. This head shape is sometimes also referred to as dolichocephaly. The head appears long and the forehead can protrude and become square-shaped.

Can scaphocephaly be corrected with helmet?

If your child is diagnosed with deformational plagiocephaly, brachycephaly or scaphocephaly and is less than 12 months old, cranial remolding may be prescribed to correct the shape of the baby's head. Helmets must be prescribed by a licensed physician.

Can craniosynostosis cause brain damage?

Sometimes, if the condition is not treated, the build-up of pressure in the baby's skull can lead to problems, such as blindness, seizures, or brain damage.

At what age does the sagittal suture close?

Sagittal Suture The suture closes sometime between the ages of 30 years old and 40 years old. The suture has been seen to close normally at age 26 and also remain open until someone in their late 50's.

How is scaphocephaly prevented?

There is no way to prevent congenital (developed in the womb before birth) flat head syndrome. The sooner a baby sees a pediatric physical therapist, the more likely it is to prevent further loss of range of motion or a worsening of the flattened skull.

At what age is craniosynostosis surgery done?

Pediatric Craniosynostosis Surgery: Traditional Approach This is typically performed for babies 5-6 months of age or older. In this surgery, a team of doctors:. Makes an incision along a baby's scalp.

What does scaphocephaly mean?

Sagittal craniosynostosis, also called scaphocephaly or dolichocephaly, is the most common type of craniosynostosis, which occurs when bones in an infant's head fuse together abnormally.

Can craniosynostosis cause brain damage?

Sometimes, if the condition is not treated, the build-up of pressure in the baby's skull can lead to problems, such as blindness, seizures, or brain damage.

When should I be concerned about my baby's head shape?

Let your doctor know immediately if you notice anything unusual or different about your baby's head shape, like: your baby's head shape is still misshapen 2 weeks or more after birth. a bulging or swollen spot on your baby's head. a sunken soft spot on your baby's head.

What are the signs of craniosynostosis?

Craniosynostosis SymptomsA full or bulging fontanelle (soft spot located on the top of the head)Sleepiness (or less alert than usual)Very noticeable scalp veins.Increased irritability.High-pitched cry.Poor feeding.Projectile vomiting.Increasing head circumference.More items...

How do you know if your baby has craniosynostosis?

The most common symptom of craniosynostosis in infants is changes in the shape of the head and face. This is often the most noticeable or only symptom of this condition in infants. These changes cause an asymmetry in a child's head and face that cause it to appear different from side to side.

Treatment

This condition can be corrected by surgery if the child is young enough. The use of a cranial remolding orthosis can also benefit the child if the child begins wearing it at an early age.

Terminology

The term is from Greek skaphe meaning 'light boat or skiff' and kephale meaning 'head') describes a specific shape of a long narrow head that resembles an inverted boat.

What Causes Sagittal Craniosynostosis?

Sagittal craniosynostosis can occur in a healthy infant for no known reason, but has also been linked to:

How Is Sagittal Craniosynostosis Diagnosed?

Our doctors can often diagnose sagittal craniosynostosis with a simple physical exam. They may also order a quick, painless image (X-ray or CT scan) to confirm their diagnosis. Your baby will not undergo any invasive medical testing.

What is the most common type of craniosynostosis?

Sagittal craniosynostosis, also called scaphocephaly or dolichocephaly, is the most common type of craniosynostosis, which occurs when bones in an infant’s head fuse together abnormally. The experienced doctors at St. Louis Children’s Hospital have been treating scaphocephaly for decades.

What is the name of the skull shaped scaphocephaly?

Sagittal craniosynostosis is also known as scaphocephaly – from the Greek for boat-shaped. It is rarely associated with problems affecting other parts of the skull, face or body. Sagittal craniosynostosis seems to affect more males than females but we are not yet sure why this should be the case.

What is the outlook for children and young people with sagittal craniosynostosis?

The outlook for children with sagittal craniosynostosis is good with the vast majority growing up to lead a normal life, working and raising a family. With input from a speech and language therapist any initial delays in speech development usually improve with no lasting effects. Raised intracranial pressure needs to be treated only if it occurs. Children are usually of normal intelligence so do well at school, college and university.

What are the symptoms of sagittal craniosynostosis?

The main sign of sagittal craniosynostosis is a bony ridge over the prematurely fused sagittal suture. Depending on whether the entire sagittal suture has fused or only part of it, children have a strong forehead and the back of the head (occipital region) is also quite prominent.

How is sagittal craniosynostosis diagnosed?

As children with sagittal craniosynostosis have a characteristic appearance, no specific diagnostic tests are needed. Imaging scans, such as x-ray or CT, may be suggested to monitor bone growth before, during and after treatment.

What is the skull long from front to back?

In sagittal craniosynostosis, all or part of the sagittal suture fuses before birth, leading to the skull being long from front to back but narrow from side to side.

What are the problems associated with sagittal craniosynostosis?

The two problems that can be associated with sagittal craniosynostosis are speech and language delay and raised intracranial pressure. Some children with sagittal craniosynostosis tend to start to speak later than other children but with help from a speech and language therapist they usually catch up.

What is the most common type of non-syndromic craniosynostosis?

Sagittal c raniosynostosis (also known as scaphocephaly) is the most common type of non-syndromic craniosynostosis and occurs when the sagittal suture fuses before birth. This information sheet from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of sagittal c raniosynostosis.

Where is the trigonocephaly suture?

Trigonocephaly is a fusion of the metopic (forehead) suture. This suture runs from the top of the head down the middle of the forehead, toward the nose. Early closure of this suture may result in a prominent ridge running down the forehead.

What is the soft spot on the top of the head?

A full or bulging fontanelle (soft spot located on the top of the head)

What causes craniosynostosis?

Craniosynostosis is a feature of many different genetic syndromes that have a variety of inheritance patterns and chances for recurrence, depending on the specific syndrome present.

What causes the forehead to stop growing?

This is called coronal synostosis, and it causes the normal forehead and brow to stop growing. The result is a flattening of the forehead and the brow on the affected side, with the forehead tending to be excessively prominent on the opposite side. The eye on the affected side may also have a different shape, and there may be flattening of the back of the head (occipital). When the suture fusion is all the way across the back of the child’s skull, the result is posterior plagiocephaly.

What is the skull made of?

In fetuses and newborns, the skull consists of several plates of bone that are separated by flexible, fibrous joints called sutures. As infants grow and develop, the sutures close, forming a solid piece of bone.

What happens when a suture fusion is done across the back of the child's skull?

When the suture fusion is all the way across the back of the child’s skull, the result is posterior plagiocephaly.

How common is cranial synostosis?

Craniosynostosis is common and occurs in one out of 2,200 live births. The condition affects males slightly more often than females. Craniosynostosis is most often sporadic (occurs by chance) but can be inherited in some families.

Where is the fontanel in a baby's skull?

The next largest is at the back (posterior). Each side of the skull has a tiny fontanel. Craniosynostosis usually involves premature fusion of a single cranial suture, but can involve more than one of the sutures in your baby's skull (multiple suture craniosynostosis). In rare cases, craniosynostosis is caused by certain genetic syndromes ...

Why is my baby's head flat?

For example, if the back of your baby's head appears flattened, it could be the result of spending too much time on one side of his or her head. This can be treated with regular position changes, or if significant, with helmet therapy (cranial orthosis) to help reshape the head to a more normal appearance.

What type of suture causes craniosynostosis?

The term given to each type of craniosynostosis depends on what sutures are affected. Types of craniosynostosis include: Sagittal (scaphocephaly). Premature fusion of the sagittal suture that runs from the front to the back at the top of the skull forces the head to grow long and narrow.

What causes craniosynostosis in babies?

Syndromic craniosynostosis is caused by certain genetic syndromes, such as Apert syndrome, Pfeiffer syndrome or Crouzon syndrome, which can affect your baby's skull development. These syndromes usually also include other physical features and health problems.

What is the term for a defect in the brain that closes prematurely?

Read about the Children's Center. Craniosynostosis (kray-nee-o-sin-os-TOE-sis) is a birth defect in which one or more of the fibrous joints between the bones of your baby's skull (cranial sutures) close prematurely (fuse), before your baby's brain is fully formed. Brain growth continues, giving the head a misshapen appearance.

What are the bones that hold the bones of a baby's skull together?

Cranial sutures and fontanels. Joints made of strong, fibrous tissue (cranial sutures) hold the bones of your baby's skull together. The sutures meet at the fontanels, the soft spots on your baby's head. The sutures remain flexible during infancy, allowing the skull to expand as the brain grows. The largest fontanel is at the front (anterior).

How to treat craniosynostosis?

Treating craniosynostosis involves surgery to correct the shape of the head and allow for normal brain growth. Early diagnosis and treatment allow your baby's brain adequate space to grow and develop.

Overview

Classification

Treatment

Terminology

See also

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